Product Details

SNP ID
rs146030823
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.5:180791931 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GGTCATAGGCCTCCCGCTGCAGGTA[A/G]GACAGGTCCAGCTGGGTGAAGTGCA
Phenotype
MIM: 160995
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
MGAT1 PubMed Links

Gene Details

Gene
MGAT1
Gene Name
mannosyl (alpha-1,3-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001114617.1 1807 Silent Mutation TCC,TCT S347S NP_001108089.1
NM_001114618.1 1807 Silent Mutation TCC,TCT S347S NP_001108090.1
NM_001114619.1 1807 Silent Mutation TCC,TCT S347S NP_001108091.1
NM_001114620.1 1807 Silent Mutation TCC,TCT S347S NP_001108092.1
NM_002406.3 1807 Silent Mutation TCC,TCT S347S NP_002397.2
XM_005265915.1 1807 Silent Mutation TCC,TCT S347S XP_005265972.1
XM_005265916.1 1807 Silent Mutation TCC,TCT S347S XP_005265973.1
XM_006714866.1 1807 Silent Mutation TCC,TCT S347S XP_006714929.1
XM_011534559.1 1807 Silent Mutation TCC,TCT S347S XP_011532861.1
XM_011534560.1 1807 Silent Mutation TCC,TCT S347S XP_011532862.1
XM_011534561.1 1807 Silent Mutation TCC,TCT S347S XP_011532863.1
XM_011534562.1 1807 Silent Mutation TCC,TCT S347S XP_011532864.1
XM_011534563.2 1807 Silent Mutation TCC,TCT S347S XP_011532865.1
XM_017009486.1 1807 Silent Mutation TCC,TCT S347S XP_016864975.1
XM_017009487.1 1807 Silent Mutation TCC,TCT S347S XP_016864976.1

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